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Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development.

D'Angelo A, De Angelis A, Avallone B, Piscopo I, Tammaro R, Studer M, Franco B.

PLoS One. 2012;7(12):e52937. doi: 10.1371/journal.pone.0052937. Epub 2012 Dec 27.


The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells.

Hunkapiller J, Singla V, Seol A, Reiter JF.

Stem Cells Dev. 2011 May;20(5):831-41. doi: 10.1089/scd.2010.0362. Epub 2010 Nov 30.


Ofd1 is required in limb bud patterning and endochondral bone development.

Bimonte S, De Angelis A, Quagliata L, Giusti F, Tammaro R, Dallai R, Ascenzi MG, Diez-Roux G, Franco B.

Dev Biol. 2011 Jan 15;349(2):179-91. doi: 10.1016/j.ydbio.2010.09.020. Epub 2010 Oct 14.


The molecular basis of oral-facial-digital syndrome, type 1.

Macca M, Franco B.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):318-25. doi: 10.1002/ajmg.c.30224. Review.


Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4.

Cortellino S, Wang C, Wang B, Bassi MR, Caretti E, Champeval D, Calmont A, Jarnik M, Burch J, Zaret KS, Larue L, Bellacosa A.

Dev Biol. 2009 Jan 1;325(1):225-37. doi: 10.1016/j.ydbio.2008.10.020. Epub 2008 Oct 29.


Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.

Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dollé P, Franco B.

Nat Genet. 2006 Jan;38(1):112-7. Epub 2005 Nov 27.


Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.

Ferrante MI, Romio L, Castro S, Collins JE, Goulding DA, Stemple DL, Woolf AS, Wilson SW.

Hum Mol Genet. 2009 Jan 15;18(2):289-303. doi: 10.1093/hmg/ddn356. Epub 2008 Oct 29.


Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling.

Moon H, Song J, Shin JO, Lee H, Kim HK, Eggenschwiller JT, Bok J, Ko HW.

Proc Natl Acad Sci U S A. 2014 Jun 10;111(23):8541-6. doi: 10.1073/pnas.1323161111. Epub 2014 May 22.


Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.

Zullo A, Iaconis D, Barra A, Cantone A, Messaddeq N, Capasso G, Dollé P, Igarashi P, Franco B.

Hum Mol Genet. 2010 Jul 15;19(14):2792-803. doi: 10.1093/hmg/ddq180. Epub 2010 May 5.


Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation.

Berbari NF, Kin NW, Sharma N, Michaud EJ, Kesterson RA, Yoder BK.

Dev Biol. 2011 Dec 1;360(1):66-76. doi: 10.1016/j.ydbio.2011.09.001. Epub 2011 Sep 16.


The graded response to Sonic Hedgehog depends on cilia architecture.

Caspary T, Larkins CE, Anderson KV.

Dev Cell. 2007 May;12(5):767-78.


Cluap1 localizes preferentially to the base and tip of cilia and is required for ciliogenesis in the mouse embryo.

Botilde Y, Yoshiba S, Shinohara K, Hasegawa T, Nishimura H, Shiratori H, Hamada H.

Dev Biol. 2013 Sep 1;381(1):203-12. doi: 10.1016/j.ydbio.2013.05.024. Epub 2013 Jun 4.


Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.

Tang Z, Lin MG, Stowe TR, Chen S, Zhu M, Stearns T, Franco B, Zhong Q.

Nature. 2013 Oct 10;502(7470):254-7. doi: 10.1038/nature12606. Epub 2013 Oct 2.


Essential role of Cenexin1, but not Odf2, in ciliogenesis.

Chang J, Seo SG, Lee KH, Nagashima K, Bang JK, Kim BY, Erikson RL, Lee KW, Lee HJ, Park JE, Lee KS.

Cell Cycle. 2013 Feb 15;12(4):655-62. doi: 10.4161/cc.23585. Epub 2013 Jan 23.


The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.

Goetz SC, Liem KF Jr, Anderson KV.

Cell. 2012 Nov 9;151(4):847-58. doi: 10.1016/j.cell.2012.10.010.


Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components.

Qin J, Lin Y, Norman RX, Ko HW, Eggenschwiler JT.

Proc Natl Acad Sci U S A. 2011 Jan 25;108(4):1456-61. doi: 10.1073/pnas.1011410108. Epub 2011 Jan 5.


A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.

Weatherbee SD, Niswander LA, Anderson KV.

Hum Mol Genet. 2009 Dec 1;18(23):4565-75. doi: 10.1093/hmg/ddp422. Epub 2009 Sep 22.


Patterning activities of vertebrate hedgehog proteins in the developing eye and brain.

Ekker SC, Ungar AR, Greenstein P, von Kessler DP, Porter JA, Moon RT, Beachy PA.

Curr Biol. 1995 Aug 1;5(8):944-55.


Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain.

Gorivodsky M, Mukhopadhyay M, Wilsch-Braeuninger M, Phillips M, Teufel A, Kim C, Malik N, Huttner W, Westphal H.

Dev Biol. 2009 Jan 1;325(1):24-32. doi: 10.1016/j.ydbio.2008.09.019. Epub 2008 Sep 26.

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